In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.

Abstract excerpt

The use of next-generation sequencing has provided new insights into the causes and mechanisms of congenital heart disease (CHD). Examinations of the whole exome sequence have detected detrimental gene variations modifying single or contiguous nucleotides, which are characterised as pathogenic based on statistical assessments of families and correlations with congenital heart disease, elevated expression during...

Topics

• Humans
• Heart Defects, Congenital
• Mutation
• Exome
• Whole Genome Sequencing
• Genomics
• DNA Copy Number Variations